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SA’s first lab for testing rare diseases

DIAGNOSTIC testing for six rare diseases can now be performed in the country thanks to American biotechnology company Sanofi Genzyme, in collaboration with the Centre for Human Metabolomics (CHM), which is affiliated to North-West University. Sanofi Genzyme and CHM have launched a ground-breaking initiative that will allow for enzyme assay analysis for lysosomal storage disorders (LSDs) to be performed in South Africa for the first time, with a quick two-week turnaround time.

LSDs comprise about 50 genetic disorders, which have a combined prevalence of one in 7 000 to one in 8 000 live births. These conditions are caused mainly by mutations in genes encoding enzymesthat are involved in the lysosomal degradation of intermediate metabolites. The progressive accumulation of these metabolic products may cause tissue and organ dysfunction and premature death.

Sanofi medical head, Dr Alicia McMaster, said diagnosing the diseases was often challenging, as the age of onset and rate of progression of the clinical signs and symptoms were variable, and these conditions often masqueraded as other diseases, leading to frequent misdiagnoses that often lasted many years. Early diagnosis would enable early treatment and optimal patient out comes.

Sanofi Genzyme head Dr Rashem Mothilal said that prior to the set-up of thelocal LSD testing facility, most of the specialised diagnostic tests for LSDs were performed at either European or American-based laboratories, and could take up to eight weeks to complete. Mothilal said having a local laboratory in South Africa will now significantly shorten diagnostic timelines. Furthermore, the expertise that ProfessorChris Vorster and his team at CHM have gained through this local capacity-building initiative will build greater confidence in local testing for rare disorders and will help improve the general awareness of lysosomal storage disorders. Rare Disease South Africa chief executive, Kelly du Plessis, said that just because these diseases do not occur widely does not mean we do not have to worry about them. If not diagnosed early enough, she said, patients can consume considerable healthcare resources.